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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANO3
(G421R +2 more)
Single nucleotide variant
(missense variant)
Dystonia 24
+2 more
GLikely pathogenic
FBN1
Single nucleotide variant
(intron variant)
FBN1-related condition
+5 more
GPathogenic/Likely pathogenic
FBN1
(C816R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GPathogenic/Likely pathogenic
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